DYSKERATOSIS CONGENITAL: CLINICAL EXOME PANEL (Sec. & CNVs) – 15 genes
Delivery time
3-4 weeks
Sample
Blood
The Dyskeratosis Congenita panel analyzes 15 genes associated with this group of telomere failure syndromes, characterized by a classic clinical triad of mucocutaneous abnormalities (reticulated hyperpigmentation, nail dystrophy, and oral leukoplakia), along with a predisposition to bone marrow failure, pulmonary fibrosis, immunodeficiency, and an increased risk of cancer. The study includes genes that encode proteins essential for telomere maintenance and genomic stability, such as DKC1, TERT, TINF2, RTEL1, POT1, NHP2, and NOP10, among others, responsible for the X-linked, autosomal dominant, and recessive forms of the disease. Next-generation sequencing (NGS) allows for the detection of point variants, indels, and CNVs that affect telomerase and shelterin complexes. Some of the genes included in this panel are: DKC1, TERT, TINF2, RTEL1, POT1, NHP2, WRAP53, PARN, NOP10, USB1. You can consult the complete list of genes by contacting Genotica.
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